TY - JOUR
T1 - Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations
AU - Schmidt-Sidor, Bogna
AU - Szymańska, Krystyna
AU - Williamson, Kathleen
AU - van Heyningen, Veronica
AU - Roszkowski, Tomasz
AU - Wierzba-Bobrowicz, Teresa
AU - Zaremba, Jacek
PY - 2009
Y1 - 2009
N2 - PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetuses whose parents were aniridic (both sporadic cases) are reported. Molecular analysis in both parents has shown different mutations in PAX6 gene and a compound heterozygosity for two PAX6 mutations in both fetuses. Neuropathologically both cases showed severe brain malformations with increased germinal proliferation, gross disturbances of migration and organization of the CNS.
AB - PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetuses whose parents were aniridic (both sporadic cases) are reported. Molecular analysis in both parents has shown different mutations in PAX6 gene and a compound heterozygosity for two PAX6 mutations in both fetuses. Neuropathologically both cases showed severe brain malformations with increased germinal proliferation, gross disturbances of migration and organization of the CNS.
UR - http://www.scopus.com/inward/record.url?scp=75149154221&partnerID=8YFLogxK
M3 - Article
C2 - 20054790
SN - 1509-572X
VL - 47
SP - 372
EP - 382
JO - Folia Neuropathologica
JF - Folia Neuropathologica
IS - 4
ER -